Variant report

Variant	rs10457420
Chromosome Location	chr6:121855643-121855644
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10456943	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10457421	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12195446	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12209355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1324093	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17083751	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2031300	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58972372	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62429983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62429984	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62429985	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62429989	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62429990	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9398642	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886594	chr6:121837314-122043117	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1847344	chr6:121845356-121875648	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1844166	chr6:121845356-121880939	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10457420	BRD7P3	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121853200-121857200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:121854800-121860800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:121854800-121867000	Weak transcription	NHEK	skin
4	chr6:121855000-121856000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:121855000-121870800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:121855200-121866000	Weak transcription	HMEC	breast
7	chr6:121855600-121855800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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